Atypical Williams syndrome in an infant with complete atrioventricular canal defect

Williams‐Beuren Syndrome (WBS) is a well‐described microdeletion syndrome characterized by specific dysmorphic facial features, peripheral pulmonic stenosis, supravalvular aortic stenosis, hypercalcemia, feeding difficulties, gastroesophageal reflux, short stature, and specific intellectual disabili...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-12, Vol.167A (12), p.3108-3112
Main Authors: Ahrens-Nicklas, Rebecca C., Reichert, Sara L., Zackai, Elaine H., Kaplan, Paige B.
Format: Article
Language:English
Subjects:
Adult
complete atrioventricular canal defect
Female
genome-wide microarray
Heart Septal Defects
Humans
Infant
Male
Mitral Valve Insufficiency - diagnosis
Phenotype
Williams syndrome
Williams Syndrome - diagnosis
Young Adult
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Summary:Williams‐Beuren Syndrome (WBS) is a well‐described microdeletion syndrome characterized by specific dysmorphic facial features, peripheral pulmonic stenosis, supravalvular aortic stenosis, hypercalcemia, feeding difficulties, gastroesophageal reflux, short stature, and specific intellectual disabilities (such as visual spatial problems). WBS is caused by 7q11.23 deletions that contain multiple genes known to contribute to the above phenotype. We report a neonate with a complete atrioventricular canal (CAVC) defect, an atypical cardiac lesion for WBS, and few typical phenotypic features of WBS, diagnosed at 20 days of life. © 2015 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37288